Scientists seek answers for rare, deadly pigment disorder
NCT ID NCT00001456
First seen Nov 01, 2025 · Last updated May 16, 2026 · Updated 22 times
Summary
This study aims to learn more about Hermansky-Pudlak Syndrome (HPS), a rare inherited disease that causes light skin and hair, bleeding problems, and can lead to deadly lung scarring. Researchers will evaluate up to 600 patients of all backgrounds to track the disease's course and find its genetic causes. No new treatments are being tested; the goal is to gather information to better understand HPS.
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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Contacts and locations
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States
Conditions
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